Amy Yang, M.D.

  • Assistant Professor of Molecular and Medical Genetics, School of Medicine

Education and training

    • B.A., 2001, Rutgers College of Rutgers University
    • M.D., 2006, New York University School of Medicine
  • Residency

    • Medical Genetics Residency Training, Mount Sinai Hospital, New York, NY, 2009-2011
    • Pediatrics Residency Training, Mount Sinai Hospital, New York, NY, 2006-2009
  • Certifications

    • Board certified by the American Board of Pediatrics - 2009
    • Board certified by the American Board of Medical Genetics, Clinical Genetics - 2011

Memberships and associations:

  • Member of the American Society of Human Genetics - 2009 to present
  • Fellow of the American College of Medical Genetics and Genomics - 2014 to present

Honors and awards

  • Howard Hughes Medical Institute Fellowship - 1999
  • Henry Rutgers Scholar: Honors thesis research in molecular biology of the circadian rhythm in D. melanogaster. - 2001
  • The Judith P. Willner Award Recipient - 2011
  • Medical Genetics Residency Program Teaching Award - 2016


Elsevier pure profile

Selected publications

  • Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Victoria Del-Castillo, Nazarenko I, Yang A, Desnick RJ. Setleis Syndrome in Mexican-Nahua Sibs Due to a Homozygous TWIST2 Frameshift Mutation and Partial Expression in Heterozygotes: Review of the Focal Facial Dermal Dysplasias and Subtype Reclassification. J Medical Genetics. 2011, Oct;48(10): 716–720.
  • Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinoremas NF. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genetics in Medicine. 2012, May; 15(5)354-60.
  • Soorya LV, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang T, Cai G, Parkhomenko E, Halpern D, Angarita B, Willner JP, Yang A, Canitano R, Betancur C, and Buxbaum JD. Prospective Investigation of Autism and Genotype-Phenotype Correlations in 22q13 Deletion Syndrome and SHANK3 Deficiency. Molecular Autism. 2013, Jun;4(1):18.
  • Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, and Mehta L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Molecular Genetics and Metabolism. 2013, Jun;110(3):345-51.
  • Kolevzon A, Angarita B, Bush LA. Wang T, Frank Y, Yang A, Rapaport R, Saland J, Srivastava S, Farrell C, Edelmann L and Buxbaum JD. Phelan-McDermid Syndrome: Practice Parameters for Medical Assessment and Monitoring. J Neurodev Disord; Accepted Sept 2014.
  • Khattab A, Yuen T, Yau M, Domenice S, Costa EMF, Diya K, Muhuri D, Pina CE, Nishi MY, Yang AC, New MI, . Pitfalls in Hormonal Diagnosis of 17-Beta Hydroxysteroid Dehydrogenase III Deficiency. Journal of Pediatric Endocrinology & Metabolism: JPEM, December 23, 2014.
  • Termsarasab P, Yang AC, Frucht SJ. Myoclonus in ataxia–telangiectasia. Tremor Other Hyperkinet Mov. 2015; 5.
  • Termsarasab P, Yang AC, Frucht SJ. Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations. Tremor Other Hyperkinet Mov. 2015; 5.
  • Ng B, Shiryaev S, Rymen D,…, Yang A, Matthijs G, Freeze H. ALG1-CDG: Clinical and molecular characterization of 39 unreported patients. Human Mutation – e-published March 2016
  • Yang AC, Bier L, Overbey J, Cohen-Pfeffer J, Desai K, Desnick R, Balwani M. Early Manifestations of Type I Gaucher Disease in Presymptomatic Children Diagnosed after Parental Carrier Screening. Genet Med – e-published October 2016


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